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Items: 1 to 20 of 151

1.
Clinical variability of BBS1 across siblings
Vanna Giang, Sarah R Weber, Jeffrey M Sundstrom
BMJ Case Rep. 2024; 17(12): e261874. Published online 2024 Dec 10. doi: 10.1136/bcr-2024-261874
PMCID:
PMC11647075
ArticlePDF–846K
2.
Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease
Claudia S. Priglinger, Maximilian J. Gerhardt, Siegfried G. Priglinger, Markus Schaumberger, Teresa M. Neuhann, Hanno J. Bolz, Yasmin Mehraein, Guenther Rudolph
Int J Mol Sci. 2024 Nov; 25(22): 12259. Published online 2024 Nov 14. doi: 10.3390/ijms252212259
PMCID:
PMC11595089
ArticlePDF–1.5M
3.
Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet–Biedl syndrome
M. Orlova, P. Gundorova, V. Kadnikova, A. Polyakov
Front Genet. 2024; 15: 1419025. Published online 2024 Jul 18. doi: 10.3389/fgene.2024.1419025
PMCID:
PMC11291329
ArticlePDF–864K
4.
Genetic profile of syndromic retinitis pigmentosa in Portugal
Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira, Ana Marta, Lilianne Duarte, Vitor Miranda, José Costa, Ana Berta Sousa, Virginie G. Peter, Karolina Kaminska, Carlo Rivolta, Ana Luísa Carvalho, Jorge Saraiva, Célia Azevedo Soares, Rufino Silva, Joaquim Murta, Luísa Coutinho Santos, João Pedro Marques
Graefes Arch Clin Exp Ophthalmol. 2024; 262(6): 1883–1897. Published online 2024 Jan 8. doi: 10.1007/s00417-023-06360-2
PMCID:
PMC11106148
ArticlePDF–1.5M
5.
Metabolic consequences of skeletal muscle- and liver-specific BBSome deficiency
Younes Rouabhi, Deng-Fu Guo, Yuying Zhao, Kamal Rahmouni
Am J Physiol Endocrinol Metab. 2023 Dec 1; 325(6): E711–E722. Published online 2023 Nov 1. doi: 10.1152/ajpendo.00174.2023
Correction in:
Am J Physiol Endocrinol Metab. 2024 Oct 1; 327(4): E469.
PMCID:
PMC10864019
Article
6.
POMC Neuron BBSome Regulation of Body Weight is Independent of its Ciliary Function
Deng-Fu Guo, Paul A Williams, Connor Laule, Charles Seaby, Qihong Zhang, Val C Sheffield, Kamal Rahmouni
Function (Oxf) 2024; 5(1): zqad070. Published online 2023 Dec 23. doi: 10.1093/function/zqad070
PMCID:
PMC10787280
ArticlePDF–1.7M
7.
A visually guided swim assay for mouse models of human retinal disease recapitulates the multi-luminance mobility test in humans
Salma Hassan, Ying Hsu, Sara K. Mayer, Jacintha Thomas, Aishwarya Kothapalli, Megan Helms, Sheila A. Baker, Joseph G. Laird, Sajag Bhattarai, Arlene V. Drack
Saudi J Ophthalmol. 2023 Oct-Dec; 37(4): 313–320. Published online 2023 Nov 18. doi: 10.4103/sjopt.sjopt_155_23
PMCID:
PMC10752274
ArticlePDF–1.9M
8.
Low-carbon municipal solid waste management using bio-based solutions and community participation: The case study of cultural tourism destination in Nan, Thailand
Thammananya Sakcharoen, Wilailuk Niyommaneerat, Bualuang Faiyue, Thapat Silalertruksa
Heliyon. 2023 Nov; 9(11): e22025. Published online 2023 Nov 7. doi: 10.1016/j.heliyon.2023.e22025
PMCID:
PMC10682672
ArticlePDF–4.0M
9.
De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1
Grace Mercedes Freke, Tiago Martins, Rosalind Jane Davies, Tina Beyer, Marian Seda, Emma Peskett, Naila Haq, Avishek Prasai, Georg Otto, Jeshmi Jeyabalan Srikaran, Victor Hernandez, Gaurav D. Diwan, Robert B. Russell, Marius Ueffing, Martina Huranova, Karsten Boldt, Philip L. Beales, Dagan Jenkins
Cells. 2023 Nov; 12(22): 2662. Published online 2023 Nov 20. doi: 10.3390/cells12222662
PMCID:
PMC10670506
ArticlePDF–9.5M
10.
Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age
Yoo-Mi Kim, Han-Hyuk Lim, Eunhee Kim, Geena Kim, Minji Kim, Hyejin So, Byoung Kook Lee, Yoowon Kwon, Jeesu Min, Young Seok Lee
J Clin Med. 2023 Oct; 12(20): 6508. Published online 2023 Oct 13. doi: 10.3390/jcm12206508
PMCID:
PMC10607479
ArticlePDF–2.1M
11.
Changes in expression of mesothelial BBS genes in 2D and 3D after lithium chloride and ammonium sulphate induction of primary cilium disturbance: a pilot study
Erasmia Rouka, Rajesh M. Jagirdar, Ioannis Sarrigeorgiou, Eleanna Pitaraki, Sotirios I. Sinis, Charalambos Varsamas, Eleftherios D. Papazoglou, Ourania S. Kotsiou, Peggy Lymberi, Anastasios Giannou, Chrissi Hatzoglou, Konstantinos I. Gourgoulianis, Sotirios G. Zarogiannis
Pharmacol Rep. 2023; 75(5): 1230–1239. Published online 2023 Aug 4. doi: 10.1007/s43440-023-00513-0
PMCID:
PMC10539424
ArticlePDF–1.4M
12.
Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants
Sheraz Khan, Ina Ofelia Focșa, Magdalena Budișteanu, Cristina Stoica, Florina Nedelea, Laurențiu Bohîlțea, Lavinia Caba, Lăcrămioara Butnariu, Monica Pânzaru, Cristina Rusu, Claudia Jurcă, Adela Emandi-Chiriță, Claudia Bănescu, Wasim Abbas, Azita Sadeghpour, Shahid Mahmood Baig, Mihaela Bălgrădean, Erica E. Davis
Am J Med Genet A. Author manuscript; available in PMC 2024 Sep 1.
Published in final edited form as: Am J Med Genet A. 2023 Sep; 191(9): 2376–2391. Published online 2023 Jun 9. doi: 10.1002/ajmg.a.63322
PMCID:
PMC10524726
ArticlePDF–1.5M
13.
Musculoskeletal Manifestations in Patients With Bardet-Biedl Syndrome: A Report of Two Cases
Gabriela M Arroyo Gonzalez, Natalio Izquierdo
Cureus. 2023 Jul; 15(7): e41963. Published online 2023 Jul 16. doi: 10.7759/cureus.41963
PMCID:
PMC10427120
ArticlePDF–965K
14.
Modelling renal defects in Bardet-Biedl syndrome patients using human iPS cells
James Williams, Chloe Hurling, Sabrina Munir, Peter Harley, Carolina Barcellos Machado, Ana-Maria Cujba, Mario Alvarez-Fallas, Davide Danovi, Ivo Lieberam, Rocio Sancho, Philip Beales, Fiona M. Watt
Front Cell Dev Biol. 2023; 11: 1163825. Published online 2023 Jun 2. doi: 10.3389/fcell.2023.1163825
PMCID:
PMC10272764
ArticlePDF–3.3M
15.
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome
Hamed Nawaz, Mujahid, Sher Alam Khan, Farhana Bibi, Ahmed Waqas, Abdul Bari, Fardous, Niamatullah Khan, Nazif Muhammad, Amjad Khan, Sohail Aziz Paracha, Qamre Alam, Mohammad Azhar Kamal, Misbahuddin M. Rafeeq, Noor Muhammad, Fayaz Ul Haq, Shazia Khan, Arif Mahmood, Saadullah Khan, Muhammad Umair
Genes (Basel) 2023 May; 14(5): 1113. Published online 2023 May 19. doi: 10.3390/genes14051113
PMCID:
PMC10217928
ArticlePDF–2.2M
16.
Ubiquitylation of BBSome is required for ciliary assembly and signaling
Francesco Chiuso, Rossella delle Donne, Giuliana Giamundo, Laura Rinaldi, Domenica Borzacchiello, Federica Moraca, Daniela Intartaglia, Rosa Iannucci, Emanuela Senatore, Luca Lignitto, Corrado Garbi, Paolo Conflitti, Bruno Catalanotti, Ivan Conte, Antonio Feliciello
EMBO Rep. 2023 Apr; 24(4): e55571. Published online 2023 Feb 6. doi: 10.15252/embr.202255571
PMCID:
PMC10074118
ArticlePDF–6.3M
17.
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
Raymond Belanger Deloge, Xiaonan Zhao, Pamela N. Luna, Chad A. Shaw, Jill A. Rosenfeld, Daryl A. Scott
Eur J Hum Genet. 2023 Mar; 31(3): 296–303. Published online 2022 Dec 6. doi: 10.1038/s41431-022-01255-y
PMCID:
PMC9995493
ArticlePDF–710K
18.
Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees
Ali Raza Rao, Aamir Nazir, Samina Imtiaz, Sohail Aziz Paracha, Yar Muhammad Waryah, Ikram Din Ujjan, Ijaz Anwar, Afia Iqbal, Federico A. Santoni, Inayat Shah, Khitab Gul, Hafiz Muhammad Azhar Baig, Ali Muhammad Waryah, Stylianos E. Antonarakis, Muhammad Ansar
Genes (Basel) 2023 Feb; 14(2): 404. Published online 2023 Feb 3. doi: 10.3390/genes14020404
PMCID:
PMC9956862
ArticlePDF–1.5M
19.
Ciliary signaling proteins are mislocalized in the brains of Bardet-Biedl syndrome 1-null mice
Toneisha Stubbs, James I. Bingman, Jason Besse, Kirk Mykytyn
Front Cell Dev Biol. 2022; 10: 1092161. Published online 2023 Jan 9. doi: 10.3389/fcell.2022.1092161
PMCID:
PMC9868275
ArticlePDF–2.4M
20.
T cell-specific deficiency in BBSome component BBS1 interferes with selective immune responses
Madeliene Stump, Deng Fu Guo, Kamal Rahmouni
Am J Physiol Regul Integr Comp Physiol. 2023 Feb 1; 324(2): R161–R170. Published online 2022 Dec 19. doi: 10.1152/ajpregu.00243.2022
PMCID:
PMC9844976
Article

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